Published in Acta Myol on October 01, 2011
Role of autophagy in glycogen breakdown and its relevance to chloroquine myopathy. PLoS Biol (2013) 1.59
A new muscle glycogen storage disease associated with glycogenin-1 deficiency. Ann Neurol (2014) 1.03
PFKM gene defect and glycogen storage disease GSDVII with misleading enzyme histochemistry. Neurol Genet (2015) 0.85
Regulators of autophagosome formation in Drosophila muscles. PLoS Genet (2015) 0.81
Pompe disease: literature review and case series. Neurol Clin (2014) 0.81
Adeno-associated virus-mediated gene therapy for metabolic myopathy. Hum Gene Ther (2013) 0.80
Investigation and management of the hepatic glycogen storage diseases. Transl Pediatr (2015) 0.79
Allele copy number and underlying pathology are associated with subclinical severity in equine type 1 polysaccharide storage myopathy (PSSM1). PLoS One (2012) 0.76
Striated muscle function, regeneration, and repair. Cell Mol Life Sci (2016) 0.76
A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease. Acta Myol (2013) 0.75
Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. J Inherit Metab Dis (2016) 0.75
NOVEL METHOD FOR DETECTION OF GLYCOGEN IN CELLS. Glycobiology (2017) 0.75
AMP-activated protein kinase--development of the energy sensor concept. J Physiol (2006) 4.93
A block of autophagy in lysosomal storage disorders. Hum Mol Genet (2007) 3.28
A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med (2010) 3.05
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab (2010) 2.99
A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE. Proc Natl Acad Sci U S A (1959) 2.24
Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle. J Clin Invest (1959) 2.14
Glycogen storage disease type III diagnosis and management guidelines. Genet Med (2010) 2.13
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol (2006) 1.92
PHOSPHOFRUCTOKINASE DEFICIENCY IN SKELETAL MUSCLE. A NEW TYPE OF GLYCOGENOSIS. Biochem Biophys Res Commun (1965) 1.79
Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. N Engl J Med (1996) 1.74
Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. Neuromuscul Disord (2008) 1.61
Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med (2009) 1.49
Myopathy due to a defect in muscle glycogen breakdown. Clin Sci (1951) 1.47
Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency? Neurology (2008) 1.45
Glycogen hyperphosphorylation underlies lafora body formation. Ann Neurol (2010) 1.41
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease. J Neurol (2010) 1.38
Glycoengineered acid alpha-glucosidase with improved efficacy at correcting the metabolic aberrations and motor function deficits in a mouse model of Pompe disease. Mol Ther (2009) 1.38
Residual acid maltase activity in late-onset acid maltase deficiency. Neurology (1977) 1.31
Surprises of genetic engineering: a possible model of polyglucosan body disease. Neurology (2001) 1.29
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med (1993) 1.28
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology (2008) 1.22
Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. Ann Neurol (2001) 1.21
Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. N Engl J Med (2010) 1.20
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology (2004) 1.19
Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. N Engl J Med (2007) 1.17
Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease. Mol Genet Metab (2010) 1.17
Debrancher deficiency: neuromuscular disorder in 5 adults. Ann Neurol (1979) 1.12
Muscle glycogenosis due to phosphoglucomutase 1 deficiency. N Engl J Med (2009) 1.10
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. Neuromuscul Disord (2010) 1.09
Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy. Neurology (1981) 1.08
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology (2008) 1.07
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics (2008) 1.06
Phenotype modulators in myophosphorylase deficiency. Ann Neurol (2003) 1.02
Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy. Science (1981) 1.00
Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein. Muscle Nerve (1981) 1.00
Myogenic hyperuricemia. A common pathophysiologic feature of glycogenosis types III, V, and VII. N Engl J Med (1987) 0.98
Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord (2004) 0.97
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase. Pediatr Res (2007) 0.97
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease. Hum Mol Genet (2009) 0.97
Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum Mol Genet (1997) 0.96
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. Am J Hum Genet (1999) 0.95
Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. PLoS Genet (2009) 0.90
ENZYMES IN A GLYCOGEN STORAGE MYOPATHY. Proc Natl Acad Sci U S A (1959) 0.89
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. Muscle Nerve (2010) 0.88
Fatal infantile form of muscle phosphorylase deficiency. Neurology (1978) 0.87
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Eur J Hum Genet (2003) 0.86
Fatal infantile form of muscle phosphofructokinase deficiency. Neurology (1986) 0.86
Peripheral nerve in type III glycogenosis: selective involvement of unmyelinated fiber Schwann cells. Muscle Nerve (1985) 0.85
Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. Neurology (1979) 0.85
Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency. J Pediatr (1988) 0.84
Accumulation of glycogen in sural nerve axons in adult-onset type III glycogenosis. Ann Neurol (1986) 0.84
A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase. Biochem Biophys Res Commun (1984) 0.83
Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease. Hum Pathol (1985) 0.83
Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Am J Med Genet A (2005) 0.83
Myopathic form of phosphoglycerate kinase (PGK) deficiency: a new case and pathogenic considerations. Neuromuscul Disord (2009) 0.82
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum Mol Genet (1994) 0.82
Where do we stand in enzyme replacement therapy in Pompe's disease? Neuromuscul Disord (2010) 0.81
Control of glycogen metabolism in human muscle. Evidence from glycogen storage diseases. Arch Neurol (1970) 0.80
Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage. J Neuropathol Exp Neurol (1994) 0.80
Fetal bradycardia at 28 weeks of gestation associated with cardiac glycogen phosphorylase b kinase deficiency. Acta Paediatr (2003) 0.80
Fatal infantile muscle phosphorylase deficiency. J Child Neurol (1989) 0.79
Infantile hypertrophic cardiomyopathy of glycogenosis type IX: isolated cardiac phosphorylase kinase deficiency. Pediatr Cardiol (1999) 0.79
Fatal infantile glycogen storage disease: deficiency of phosphofructokinase and phosphorylase b kinase. Neurology (1981) 0.79
Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. Brain (2009) 0.79
Infantile phosphofructokinase deficiency with arthrogryposis: clinical benefit of a ketogenic diet. J Pediatr (1997) 0.79
Adult-onset acid maltase deficiency. Morphologic and biochemical abnormalities reproduced in in cultured muscle. N Engl J Med (1976) 0.79
Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase. Virchows Arch A Pathol Anat Histopathol (1993) 0.79
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, biochemical and molecular genetic studies. Neuromuscul Disord (2010) 0.79
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene. Neuromuscul Disord (2009) 0.78
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency. Neurology (1994) 0.77
Muscle phosphorylase b kinase deficiency revisited. Neuromuscul Disord (2010) 0.77
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. Biochem Biophys Res Commun (1998) 0.77
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis. Histopathology (2006) 0.76
Fetal akinesia sequence caused by glycogenosis type VII. Genet Couns (1995) 0.76
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency. Neuromuscul Disord (1997) 0.76
Muscle phosphoglycerate mutase deficiency revisited. Arch Neurol (2009) 0.76
Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis. Childs Nerv Syst (1992) 0.76
Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. J Child Neurol (2007) 0.76
Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiency. Clin Genet (1999) 0.75
Efficacy of rivastigmine in dementia with Lewy bodies: a randomised, double-blind, placebo-controlled international study. Lancet (2000) 4.37
Self-reports versus sleep laboratory findings in 122 drug-free subjects with complaints of chronic insomnia. Am J Psychiatry (1976) 2.30
Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet (1992) 2.18
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias. Neurology (2011) 2.09
Direct access to serum macromolecules by intraerythrocytic malaria parasites. Nature (1991) 1.72
Striatal glucose metabolism and dopamine D2 receptor binding in asymptomatic gene carriers and patients with Huntington's disease. Brain (1996) 1.64
KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet (2000) 1.53
The cholinergic rapid eye movement sleep induction test with RS-86. State or trait marker of depression? Arch Gen Psychiatry (1989) 1.49
Intussusception in adults. Mt Sinai J Med (2000) 1.47
PULMONARY INFARCTION AND EMBOLISM. Ann Surg (1929) 1.37
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet (1994) 1.22
Effects of rivastigmine on cognitive function in dementia with lewy bodies: a randomised placebo-controlled international study using the cognitive drug research computerised assessment system. Dement Geriatr Cogn Disord (2002) 1.20
Encysted peritoneal hydatidosis in a child -- the effectiveness of pre-operative therapy with a combination of praziquantel and albendazole. Ann Trop Med Parasitol (2005) 1.16
First record of breeding populations of Aedes albopictus in continental Africa: implications for arboviral transmission. J Am Mosq Control Assoc (1992) 1.13
An effective therapy for both undifferentiated (including Burkitt's) lymphomas and lymphoblastic lymphomas in children and young adults. Blood (1984) 1.12
Acute respiratory infections in Nigerian children: prospective cohort study of incidence and case management. J Trop Pediatr (1994) 1.09
SMN gene deletion in variant of infantile spinal muscular atrophy. Lancet (1995) 1.05
A double-blind comparative study of clozapine and risperidone in the management of severe chronic schizophrenia. Am J Psychiatry (2001) 1.05
Cognitive performance in Alzheimer's disease patients receiving rivastigmine for up to 5 years. Int J Clin Pract (2005) 1.04
Efficacy of rivastigmine in subjects with moderately severe Alzheimer's disease. Int J Geriatr Psychiatry (2004) 0.98
Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. Am J Hum Genet (1995) 0.96
Inhibition of acetyl- and butyryl-cholinesterase in the cerebrospinal fluid of patients with Alzheimer's disease by rivastigmine: correlation with cognitive benefit. J Neural Transm (Vienna) (2002) 0.96
A retrospective study of diagnosis and management of mesenteric vein thrombosis. Am J Surg (2001) 0.95
Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination. Hum Genet (1993) 0.93
Validation of the NOSGER (Nurses' Observation Scale for Geriatric Patients): reliability and validity of a caregiver rating instrument. Int Psychogeriatr (1996) 0.90
Hypnotic efficacy of temazepam: a long-term sleep laboratory evaluation. Br J Clin Pharmacol (1979) 0.90
The influence of anxiety and pain sensitivity on experimental pain in man. Pain (1978) 0.89
Dementia with lewy bodies: findings from an international multicentre study. Int J Geriatr Psychiatry (2000) 0.87
Pharmacologic and clinicopharmacologic properties of SDZ ENA 713, a centrally selective acetylcholinesterase inhibitor. Ann N Y Acad Sci (1991) 0.86
Improving the diagnostic accuracy of the Mini-Mental State Examination. Acta Neurol Scand (1995) 0.86
Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. J Med Genet (1992) 0.86
Human EEG slow-wave sleep increased by a serotonin antagonist. Electroencephalogr Clin Neurophysiol (1982) 0.84
[Familial giant hemangiomas of the liver. Study of a family and review of the literature]. Praxis (Bern 1994) (1998) 0.84
CT of American Burkitt lymphoma. AJR Am J Roentgenol (1981) 0.83
Parental origin of the supernumerary chromosome in trisomy 18. Clin Genet (1993) 0.83
Age-dependent phenotypic expression of a pattern dystrophy of the retina. Eur J Ophthalmol (1995) 0.82
Significance of slow wave sleep: considerations from a clinical viewpoint. Sleep (1986) 0.82
Genetic heterogeneity in autosomal dominant pattern dystrophy of the retina. Mol Vis (1996) 0.80
Psychiatric symptoms and CAG expansion in Huntington's disease. Am J Med Genet (1996) 0.80
Effects of the novel acetylcholinesterase inhibitor SDZ ENA 713 on sleep in man. Neuropsychopharmacology (1993) 0.80
Critical review of clinical trials in senile dementia--II. Postgrad Med J (1987) 0.80
Protocols to demonstrate slowing of Alzheimer disease progression. Position paper from the International Working Group on Harmonization of Dementia Drug Guidelines. The Disease Progression Sub-Group. Alzheimer Dis Assoc Disord (1997) 0.80
A PCR based X-chromosome inactivation assay for carrier detection in X-linked immunodeficiencies using differential methylation of the androgen receptor gene. Immunodeficiency (1995) 0.80
Category fluency is also predominantly affected in Swiss Alzheimer's disease patients. Acta Neurol Scand (1997) 0.80
Central effects of guanfacine and clonidine during wakefulness and sleep in healthy subjects. Br J Clin Pharmacol (1980) 0.80
[Conviction as a basis for compliance and strategies for improving compliance]. Schweiz Med Wochenschr (1999) 0.79
[Pharmacotherapy of central oculomotor disorders]. Nervenarzt (2008) 0.79
Preserved cognitive function after 12 months of treatment with rivastigmine in mild Alzheimer's disease in comparison with untreated AD and MCI patients. Eur J Neurol (2004) 0.79
Effects of amphetamines on performance and on polygraphic sleep parameters in man. Adv Biosci (1979) 0.79
Muscarinic agonists for senile dementia: past experience and future trends. Trends Pharmacol Sci (1989) 0.78
Clinical trials with the cholinergic drug RS 86 in Alzheimer's disease (AD) and senile dementia of the Alzheimer type (SDAT). Psychopharmacology (Berl) (1984) 0.78
Longitudinal mixing in pulmonary airways--normal subjects respiring at a constant flow. J Appl Physiol Respir Environ Exerc Physiol (1978) 0.78
Early diagnosis of dementia via a two-step screening and diagnostic procedure. Int Psychogeriatr (1997) 0.77
Influence of the cholinergic agonist SDZ 210-086 on sleep in healthy subjects. Neuropsychopharmacology (1993) 0.77
Polygraphic sleep studies in rats and humans: their use in psychopharmacological research. Arzneimittelforschung (1976) 0.76
The effect of zoledronic acid on the fracture risk in men with osteoporosis. J Endocrinol Invest (2014) 0.76
Alpha-2-interferon/melphalan/prednisone in previously untreated patients with multiple myeloma: a phase I-II trial. Cancer Treat Rep (1986) 0.76
Cystic fibrosis associated with neuronal intestinal dysplasia type B: a case report. J Pediatr Surg (1996) 0.75
EEG and sleep in aged hospitalized patients with senile dementia: 24-h recordings. Experientia (1983) 0.75
Correlations between triplet repeat expansion and clinical features in Huntington's disease. Arch Neurol (1996) 0.75
Comparative pharmacopsychological study of the effects produced by psychopharmaceuticals on verbal interaction in a group of students. Experientia (1970) 0.75
[Rorschach test findings in two groups of patients with rheumatic diseases (ankylosing spondylitis--lumbar herniated disk)]. Z Exp Angew Psychol (1969) 0.75
Effects of RS 86, an orally active cholinergic agonist, on sleep in man. Psychiatry Res (1984) 0.75
Progressive subcutaneous and periarticular calcifications in a patient with spinal muscular atrophy type III. Neuropediatrics (1995) 0.75
Two novel mutations: 5108delAG and 5816insG in the NF1 gene detected by SSCP analysis. Hum Mol Genet (1993) 0.75
Muscarinic cholinergic agonists: pharmacological and clinical perspectives. Prog Brain Res (1986) 0.75
Survival, psychoanalysis and the Third Reich. J Am Acad Psychoanal (1985) 0.75
[A new geriatric battery test]. Fortschr Med (1979) 0.75
A long-term study with co-dergocrine mesylate (Hydergine) in healthy pensioners. Results after 3 years. Gerontology (1984) 0.75
[Acral rewarming. II: Comparison of healthy probands and depressed patients]. Schweiz Arch Neurol Psychiatr (1987) 0.75
[Sleep disorders in the aged]. Internist (Berl) (1984) 0.75
A controlled long-term study with ergoloid mesylates (Hydergine) in healthy, elderly volunteers: results after three years. J Am Geriatr Soc (1983) 0.75
Freud and the women in his world. J Am Acad Psychoanal (1977) 0.75
Selective renal artery embolization. Treatment of acute renovascular hypertension. JAMA (1977) 0.75
Anger and acting out: masks of depression. Am J Psychother (1967) 0.75
Experiments with a new kind of aggression-machine: the influence of partners' aggressive behavior on subjects' emotional status and behavior. Agressologie (1974) 0.75
[Acral rewarming. I: "Normal data" of a healthy adult population]. Schweiz Arch Neurol Psychiatr (1987) 0.75
Differential effects of direct and indirectly acting cholinergic agonists on growth hormone release in man, and lack of effect on cortisol secretion. J Neuroendocrinol (1989) 0.75
On psychotherapy of patients with problems of hostility. Am J Psychother (1980) 0.75
Interferon alpha-2a and dacarbazine in melanoma. J Natl Cancer Inst (1990) 0.75
[Occult bacteremia in children--an old syndrome, new approaches]. Harefuah (1999) 0.75
Effects of long-term ergoloid mesylates ('Hydergine') administration in healthy pensioners: 5-year results. Curr Med Res Opin (1986) 0.75
Reflections on depression and melancholy: from myth to psychoanalysis. J Am Acad Psychoanal (1976) 0.75
Phase II studies of PCNU and bisantrene in advanced renal cell carcinoma. Cancer Treat Rep (1987) 0.75
[X-chromosomal bulbospinal muscular atrophy (Kennedy syndrome)]. Schweiz Med Wochenschr (1998) 0.75
[The memory clinic]. Ther Umsch (1989) 0.75
Action of lysine-vasopressin on human electroencephalographic activity. Night sleep pattern, auditory evoked potential, contingent negative variation. Neuropsychobiology (1982) 0.75
Rapid detection of sex chromosomal aneuploidies by PCR. Indian J Med Res (1995) 0.75
Role of recombinant interferon alpha 2 and cimetidine in patients with advanced malignant melanoma. J Cancer Res Clin Oncol (1988) 0.75
Recombinant interferon alpha-2 (INTRON A) in a phase II study of renal cell carcinoma. J Biol Response Mod (1986) 0.75
Critical review of clinical trials in senile dementia--I. Postgrad Med J (1987) 0.75
On psychoanalysis, values, and ethics. J Am Acad Psychoanal (1978) 0.75
[Comparative study of the verbal interactions in a group of healthy subjects under the influence of psychological drugs]. Schweiz Arch Neurol Neurochir Psychiatr (1974) 0.75
Characterization of ergot and non-ergot serotonin antagonists by prolactin and growth hormone profiles during wakefulness and sleep. Brain Res (1980) 0.75
[Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?]. Schweiz Med Wochenschr (1993) 0.75
[Prediction of treatment outcome with antidepressants: are short REM latencies diagnostically and prognostically reliable indicators?]. Fortschr Neurol Psychiatr (1984) 0.75
[Psychological differences between acute and chronic stages of spinal diseases. Comparative study, using the Rorschach test, on 2 patients with rheumatic diseases: ankylosing spondylitis and lumbar disk hernia]. Psychother Psychosom (1969) 0.75
[Effect of non-prescription soporific on the sleep polygram of healthy volunteers]. Schweiz Rundsch Med Prax (1984) 0.75